Mutations in SEC63 cause autosomal dominant polycystic liver disease

Autor:	Pia Tahvanainen, Airong Li, Richard P. Lifton, Patrick S. Kamath, Yves Pirson, Stefan Somlo, Yiqiang Cai, Helena Kääriäinen, Bernard F. King, Vicente E. Torres, Xin Tian, Laszlo Furu, Ali G. Gharavi, Krister Höckerstedt, Sonia Davila, Rodolfo S. Martin, Qi Qian, Tamehito Onoe, Pablo Javier Azurmendi, Olivier Devuyst, Esa Tahvanainen
Rok vydání:	2004
Předmět:	medicine.medical_specialty DNA Mutational Analysis Disease Biology medicine.disease_cause Endoplasmic Reticulum 03 medical and health sciences 0302 clinical medicine SEC63 Internal medicine Genetics medicine Humans 030304 developmental biology chemistry.chemical_classification 0303 health sciences Mutation Autosome PRKCSH Polycystic liver disease Endoplasmic reticulum Membrane Proteins RNA-Binding Proteins medicine.disease Polycystic Kidney Autosomal Dominant 3. Good health Endocrinology Enzyme chemistry Cancer research 030211 gastroenterology & hepatology Chromosomes Human Pair 6 Protein Processing Post-Translational Molecular Chaperones
Zdroj:	Nature genetics. 36(6)
ISSN:	1061-4036
Popis:	Mutations in PRKCSH, encoding the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum (ER), cause autosomal dominant polycystic liver disease. We found that mutations in SEC63, encoding a component of the protein translocation machinery in the ER, also cause this disease. These findings are suggestive of a role for cotranslational protein-processing pathways in maintaining epithelial luminal structure and implicate noncilial ER proteins in human polycystic disease.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2c70ce82d96bbfaafcd1ae7b83da593 https://pubmed.ncbi.nlm.nih.gov/15133510 Zobrazit plný text záznamu Plný text ve formátu PDF